Genetic Analysis of FLT4 Gene Mutation in Prenatal Edema Fetus
To investigate the genetic etiology of a case of fetal edema with prenatal ultrasound manifestations of pleural effusion and ascites,the amniotic fluid of fetus and the peripheral blood of its parents were collected,and the whole exome sequencing(WES)technology was used to screen the pathogenic mutation sites related to clinical phenotype,and the sites were verified by Sanger sequencing.Results:WES and Sanger sequencing confirmed that there was a c.2764C＞G(p.p922a)mutation in the 20th exon of fetal FLT4 gene,which was a new heterozygous mutation.This mutation is not included in the gene database of normal reference population,and it is likely to affect the protein structure/function by a variety of software aided analysis and prediction.According to the classification criteria and guidelines of genetic variation of the American Society of Medical Genetics and Genomics,c.2 764C＞G(p.p922a)is a suspected pathogenic variation(PS2+PM1+PM2+PP3).Conclusion:the heterozygous variation of FLT4 gene c.2764C＞G(p.p922a)may be the cause of fetal edema in this case,which can provide the basis for family genetic counseling.
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